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1.
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Genet Med
; 23(12): 2415-2425, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34400813
2.
Ultrarapid Nanopore Genome Sequencing in a Critical Care Setting.
N Engl J Med
; 386(7): 700-702, 2022 02 17.
Article
in English
| MEDLINE | ID: mdl-35020984
3.
Early somatic mosaicism is a rare cause of long-QT syndrome.
Proc Natl Acad Sci U S A
; 113(41): 11555-11560, 2016 10 11.
Article
in English
| MEDLINE | ID: mdl-27681629
4.
Clinically impactful differences in variant interpretation between clinicians and testing laboratories: a single-center experience.
Genet Med
; 20(3): 369-373, 2018 Mar.
Article
in English
| MEDLINE | ID: mdl-29240077
5.
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Genet Med
; 24(4): 967, 2022 Apr.
Article
in English
| MEDLINE | ID: mdl-35394429
6.
Multi-site validation of a functional assay to adjudicate SCN5A Brugada Syndrome-associated variants.
medRxiv
; 2023 Dec 20.
Article
in English
| MEDLINE | ID: mdl-38196587
7.
Mono- and Biallelic Protein-Truncating Variants in Alpha-Actinin 2 Cause Cardiomyopathy Through Distinct Mechanisms.
Circ Genom Precis Med
; 14(6): e003419, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34802252
8.
Why Ancestral Diversity in Genetic Testing Matters: Lessons Learned From Hypertrophic Cardiomyopathy.
Circ Heart Fail
; 17(3): e011484, 2024 03.
Article
in English
| MEDLINE | ID: mdl-38456261
9.
Ultra-Rapid Nanopore Whole Genome Genetic Diagnosis of Dilated Cardiomyopathy in an Adolescent With Cardiogenic Shock.
Circ Genom Precis Med
; 15(2): e003591, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35133172
10.
Structural Abnormalities on Cardiac Magnetic Resonance Imaging in Patients With Catecholaminergic Polymorphic Ventricular Tachycardia.
JACC Clin Electrophysiol
; 6(6): 741-742, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32553227
11.
Molecular diagnosis of long QT syndrome at 10 days of life by rapid whole genome sequencing.
Heart Rhythm
; 11(10): 1707-13, 2014 Oct.
Article
in English
| MEDLINE | ID: mdl-24973560
12.
Broad Genetic Testing in a Clinical Setting Uncovers a High Prevalence of Titin Loss-of-Function Variants in Very Early Onset Atrial Fibrillation.
Circ Genom Precis Med
; 12(11): e002713, 2019 11.
Article
in English
| MEDLINE | ID: mdl-31638414
13.
Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation.
Circ Cardiovasc Genet
; 5(6): 602-10, 2012 Dec.
Article
in English
| MEDLINE | ID: mdl-23074333
14.
Arrhythmogenic Right Ventricular Cardiomyopathy: Toward a Modern Clinical and Genomic Understanding.
Circ Cardiovasc Genet
; 8(3): 421-4, 2015 Jun.
Article
in English
| MEDLINE | ID: mdl-26082552
15.
A clinical approach to inherited hypertrophy: the use of family history in diagnosis, risk assessment, and management.
Circ Cardiovasc Genet
; 6(1): 118-31, 2013 Feb.
Article
in English
| MEDLINE | ID: mdl-23424256
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